Linked Data
ClinVar Variation Id:
402973
ClinVar RCV Id:
RCV000455173
dbSNP Id:
rs5880323
ExAC:
6:137325901 TAA / T
gnomAD v2:
6-137325901-TAA-T
gnomAD v3:
6-137004764-TAA-T
gnomAD v4:
6-137004764-TAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.137004778_137004779del , CM000668.2:g.137004778_137004779del | GRCh38 |
| NC_000006.11:g.137325915_137325916del , CM000668.1:g.137325915_137325916del | GRCh37 |
| NC_000006.10:g.137367608_137367609del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316649.10:c.725-6_725-5del MANE Select | ENSP00000314976.5:n.725-6_725-5del | |
| ENST00000316649.9:c.725-6_725-5del | ENSP00000314976.5:n.725-6_725-5del | |
| ENST00000367748.4:c.392-6_392-5del | ENSP00000356722.1:n.392-6_392-5del | |
| ENST00000468393.5:c.392-6_392-5del | ENSP00000489177.1:n.392-6_392-5del | |
| ENST00000541547.5:c.578-6_578-5del | ENSP00000437843.1:n.578-6_578-5del | |
| NM_001278722.1:c.578-6_578-5del | NP_001265651.1:n.578-6_578-5del | |
| NM_001278723.1:c.392-6_392-5del | NP_001265652.1:n.392-6_392-5del | |
| NM_001278724.1:c.326-6_326-5del | NP_001265653.1:n.326-6_326-5del | |
| NM_014432.3:c.725-6_725-5del | NP_055247.3:n.725-6_725-5del | |
| XM_006715505.2:c.659-6_659-5del | XP_006715568.1:n.659-6_659-5del | |
| XM_006715506.2:c.326-6_326-5del | XP_006715569.1:n.326-6_326-5del | |
| XM_011535904.1:c.392-6_392-5del | XP_011534206.1:n.392-6_392-5del | |
| XM_011535904.2:c.392-6_392-5del | XP_011534206.1:n.392-6_392-5del | |
| XM_017010954.2:c.728-6_728-5del | XP_016866443.1:n.728-6_728-5del | |
| XM_017010955.1:c.581-6_581-5del | XP_016866444.1:n.581-6_581-5del | |
| NM_001278724.2:c.326-6_326-5del | NP_001265653.2:n.326-6_326-5del | |
| NM_001278722.2:c.578-6_578-5del | NP_001265651.2:n.578-6_578-5del | |
| NM_001278723.3:c.392-6_392-5del | NP_001265652.2:n.392-6_392-5del | |
| NM_001278724.4:c.326-6_326-5del | NP_001265653.2:n.326-6_326-5del | |
| NM_014432.4:c.725-6_725-5del MANE Select | NP_055247.4:n.725-6_725-5del |